title: Terminal deletion of chromosome 6q.
abstract: Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature. Features of previously described patients are also summarized.
authors.affiliation: Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
authors.forename: Kai-Chi
authors.initials: KC
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics
chemical_list: D019382:Human Growth Hormone